| Sequence Name | Change(s) |
|---|---|
| GRCh38.p7 chr 4 | NC_000004.12:g.68817077G>A |
| GRCh37.p13 chr 4 | NC_000004.11:g.69682795G>A |
| GRCh38.p7 chr 4 alt locus HSCHR4_1_CTG9 | NT_167250.2:g.393096G>A |
| GRCh37.p13 chr 4 alt locus HSCHR4_1_CTG9 | NT_167250.1:g.395046G>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| UGT2B10 transcript variant 1 | NM_001075.5:c. | N/A | Intron Variant |
| UGT2B10 transcript variant 2 | NM_001144767.2:c. | N/A | Intron Variant |
| UGT2B10 transcript variant 3 | NM_001290091.1:c. | N/A | Intron Variant |
| UGT2B10 transcript variant X1 | XM_017008585.1:c. | N/A | Intron Variant |
| Study | Population | Group | Sample # | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| 1000Genomes | African | Sub | 1322 | G=0.965 | A=0.035 |
| 1000Genomes | American | Sub | 694 | G=0.930 | A=0.070 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.999 | A=0.001 |
| 1000Genomes | Europe | Sub | 1006 | G=0.909 | A=0.091 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.956 | A=0.044 |
| 1000Genomes | South Asian | Sub | 978 | G=0.970 | A=0.030 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.903 | A=0.097 |
| The Genome Aggregation Database | African | Sub | 8718 | G=0.956 | A=0.044 |
| The Genome Aggregation Database | American | Sub | 834 | G=0.950 | A=0.050 |
| The Genome Aggregation Database | East Asian | Sub | 1592 | G=0.999 | A=0.001 |
| The Genome Aggregation Database | Europe | Sub | 18432 | G=0.917 | A=0.082 |
| The Genome Aggregation Database | Global | Study-wide | 29878 | G=0.933 | A=0.066 |
| The Genome Aggregation Database | Other | Sub | 302 | G=0.920 | A=0.080 |
| Trans-Omics for Precision Medicine | Global | Study-wide | 29118 | G=0.937 | A=0.062 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.886 | A=0.114 |
| PMID | Title | Author | Journal |
|---|---|---|---|
| 17909004 | Glucuronidation of nicotine and cotinine by UGT2B10: loss of function by the UGT2B10 Codon 67 (Asp>Tyr) polymorphism. | Chen G | Cancer Res |
| 18300939 | Identification of a prevalent functional missense polymorphism in the UGT2B10 gene and its association with UGT2B10 inactivation against tobacco-specific nitrosamines. | Chen G | Pharmacogenet Genomics |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY | Biomed Rep |
| SNP ID | p-value | Traits | Study |
|---|---|---|---|
| rs7657958 | 0.001 | Drug response to nicotine | 17909004 |
| rs7657958 | 0.001 | Drug response to nicotine | 18300939 |
| Position (v37) | eGene | GeneID | Variant | p-value | TSS | Tissue |
|---|---|---|---|---|---|---|
| Chr4:69682795 | RP11-468N14.13 | ENSG00000272626.1 | G>A | 2.2180e-9 | -89906 | Cerebellum |
| Probe ID | Position | Gene | beta | p-value | |||
|---|---|---|---|---|---|---|---|
| There is no meQTL annotation for this SNP | |||||||
There is no significant Hi-C chromatin interaction data for this SNP.